A New Definition of Genetic Counseling: National Society of Genetic Counselors’ Task Force Report
- 3.5k Downloads
The Genetic Counseling Definition Task Force of the National Society of Genetic Counselors (NSGC) developed the following definition of genetic counseling that was approved by the NSGC Board of Directors:
Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This process integrates the following:
•Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence.
•Education about inheritance, testing, management, prevention, resources and research.
•Counseling to promote informed choices and adaptation to the risk or condition.
The definition was approved after a peer review process with input from the NSGC membership, genetic professional organizations, the NSGC legal counsel, and leaders of several national genetic advocacy groups.
KEY WORDS:genetic counseling genetic counseling definition genetic counseling history National Society of Genetic Counselors.
In 2003 the National Society of Genetic Counselors (NSGC) appointed a task force that was charged with assessing the need for a new definition of genetic counseling. The creation of the Task Force was spurred by the advent of genomic medicine and the need to maintain a common practice base to genetic counseling as it expands beyond traditional settings into laboratory genetic medicine, public health, social and behavioral research, and common disease subspecialties (Bennett et al., 2003; Ciarleglio et al., 2003).
The authors constitute the NSGC's ad hoc task force on the Genetic Counseling Definition, herein referred to as the Task Force. Robin Bennett, then NSGC President, convened the task force. The composition of the Task Force reflected a wide range of specialization and experience. An Expert Panel comprised of Luba Djurdjinovic, M.S., Seymour Kessler, Ph.D., Wendy Uhlmann, M.S., Sharon Terry, M.A., and Jon Weil, Ph.D. advised the Task Force.
The charge assigned the Task Force was to define “genetic counseling,” rather than the profession of “genetic counselors.” This is an important distinction. Genetic counselors have many roles such as designing and conducting research, managing clinical cases, supervising trainees, teaching, making health care policy, and developing and implementing educational tools. Although many of these activities relate directly to genetic counseling, they are distinct from the counseling process. Simultaneous to our endeavor, NSGC appointed a task force to develop a scope of practice document that would capture many of these activities. Therefore, rather than defining what genetic counselors do, we were charged with describing what genetic counseling is, i.e., the essence of the relationship between the client and counselor when they interact. In defining genetic counseling practice, we do not stipulate who is qualified to provide it. This is the purview of the American Board of Genetic Counseling (www.abgc.net) and other professional organizations. However one of our aims was to create a definition that genetic counselors could use to convey their practice to other health care providers, legislators, health insurance executives and hospital administrators.
The multi-faceted purpose of this effort to define genetic counseling includes the development of common language in describing an important dimension of genomic medicine. Definitions promote understanding and awareness, and help to operationalize practice for research purposes. A definition also clarifies goals as they dictate practice (for further discussion see Biesecker 2001). The process of evaluating the need for and developing a new genetic counseling definition are described in this paper.
Review of Existing Definitions
The Task Force first reviewed existing practice definitions (see Appendix). We searched MEDLINE for definitions from the mid-1960's through 2004 via PubMed using the terms “genetic counseling,” “genetic counseling definition,” “genetic counseling history,” and “genetic counselor.” We also reviewed genetic counseling and medical genetics textbooks, along with bibliographies of relevant publications since 1948. Colleagues, genetic counseling websites and professional pamphlets were also consulted. Several of the definitions were from other countries (Revel, 1995).
More than 20 published definitions were identified, the earliest being the 1948 article by Sheldon Reed where he coined the term. (For a more detailed review of the history of definitions of genetic counseling, see Resta in press). The 1975 definition adopted by the American Society of Human Genetics is the only definition created by a professional committee and is the most commonly cited in the literature. All other definitions were academic or descriptive and authored by leaders in the profession or anonymous sources, as in the case of pamphlets or brochures. The NSGC website and pamphlets describe what genetic counselors do, but prior to now the organization had no practice definition.
While the ASHG definition still captures important aspects of genetic counseling (Walker, 1998), it is cumbersome and lacks reference to the counseling elements (Biesecker and Peters, 2001). Other definitions were judged to be too short (Kessler, 1979; Reed, 1974; Resta, 2006), incomplete (Hsia and Hirschorn, 1979), focused primarily on disease prevention (Biesecker, 2001; Epstein, 1973; Harper, 1998) or particularly academic or overly technical for broad use (Bringle and Antley, 1980; Biesecker and Peters, 2001). Based on this review, the Task Force concluded that there was a need for a newdefinition.
Composing and Vetting a New Definition
The Task Force began considering a new definition by identifying target audiences and applications. These included marketing the profession, increasing public and professional awareness, crafting licensure legislation, developing practice guidelines, providing a basis for research into the counseling process and outcomes, and developing educational materials.
Care was taken to avoid scientific or technical jargon and to create a definition that was broad enough to apply to many settings. In particular, the phrase “genetic contributions to disease” was chosen to embrace the growing practice of genetic counseling for common or complex diseases. The Task Force developed and revised many versions of the definition. The Expert Panel reviewed two drafts and appropriate revisions were made.
NSGC membership comments were elicited via the NSGC listserv. The leadership of other professional genetics societies in the United States and Canada reviewed a revised version. We gathered input from consumers who lead advocacy organizations who in turn requested comments from their own constituency organizations. After each solicitation, revisions were made to the definition by the chairs of the Task Force. The NSGC legal counsel and marketing consultant firm also both approved the final definition. In July 2005, the NSGC Board of Directors adopted the definition.
Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence.
Education about inheritance, testing, management, prevention, resources and research.
Counseling to promote informed choices and adaptation to the risk or condition.
The full definition may be most useful for teaching and research purposes. Alternatively, it can be shortened to only the first sentence. We anticipate that the shorter version will be most useful for marketing, policy, legislation and educational materials.
NSGC's leadership recognizes the importance of genetic counseling in meeting healthcare demands imposed by the emerging era of genomic medicine. In fostering the development of a contemporary practice definition, NSGC is taking one of many steps to facilitate genetic counselors’ positioning at the forefront of this rapidly expanding field. The definition will aid unification of the field as it expands into primary care by clarifying what genetic counseling involves. The specialization of genetic counseling into cardiology, psychiatry, neurology, oncology, ophthalmology and other arenas, could lead to fractionation. Identifying the core aspects of genetic counseling practice common to all settings can offset the centrifugal effect of specialization.
A key role for genetic counselors is the education of other health care professionals about genetics (Collins and Guttmacher, 2001). A clear practice definition is an important component of this endeavor. The delineation of genetic counseling complements efforts to determine roles of a variety of providers in the care of clients/patients (Guttmacher et al., 2001).
The NSGC definition is not based on research data, but rather on clinical descriptions and experience (Biesecker and Peters, 2001). How accurately it reflects clinical practice is an empirical question. Research will help to discern whether all three elements—risk assessment, education and counseling—routinely occur and in what proportion (e.g., Roter et al., in press). Without the benefit of process research, this definition might be considered a standard for genetic counseling practice, what it should or can entail. Some studies have found great variability in genetic counseling sessions (Matloff, 1994), suggesting that the definition broadly describes what may happen in practice and not necessarily what routinely happens.
An undertaking by a committee to define a broad professional practice invariably involves compromise. The outcome becomes distilled down to a product that provokes the least amount of controversy and speaks to the greatest number of people. One area of controversy in developing this definition, for example, was the extent to which it would address ethical practice issues. Eventually the Task Force chose to eliminate reference to ethical issues, justified by the conviction that genetic counseling practice should be ethical. Ethical guidelines for the profession are addressed in the NSGC Code of Ethics (www.nsgc.org).
A second concern was critique of the word “process.” One reviewer made a compelling case for use of the word “relationship” rather than process to draw attention to the importance of the connection between the counselor and client and the investment in the endeavor. However other reviewers were uncomfortable with use of relationship as a descriptor.
We anticipate that genetic counselors conducting research, managing the interpretation of laboratory tests, marketing testing services, or working on educational or policy projects may find the definition does not represent their current work. This suggests that genetic counseling is not a key component of their current job responsibilities that draw on other professional skills of genetic counselors. Genetic counselors working in these and other capacities are encouraged to find their roles and responsibilities represented in the scope of practice document currently drafted by the NSGC (www.nsgc.org).
Practice definitions are not created in a social vacuum but rather reflect larger social trends, the socioeconomic background of genetic counselors, advances in medical technology and scientific knowledge, changing ethical values, and the motivation behind formulating a given practice definition (Resta, in press). In this rapidly evolving area, the NSGC definition forms the basis for assessing the field of genetic counseling for its relevance, its usefulness in counseling practice, and its value to society.
- Access Excellence–http://www.accessexcellen-ce.org/AE/AEPC/ BE022/zanko/images/gencouns. htmlGoogle Scholar
- Agashe, P. P., & Shrikhande, S. V. (2001). Cancer genetics: Counselling, psychological and medicolegal issues. Bombay Hos J Google Scholar
- American Board of Genetic Counseling (2005). (www.abgc.net; accessed November 4, 2005).Google Scholar
- ASHG—American Society of Human Genetics Ad Hoc Committee on Genetic Counseling (1975). Genetic counseling. Am J Hum Genet, 27 240–242.Google Scholar
- Chadwick, R. F. (1993). What counts as success in genetic counselling? J Med Ethics, 19, 43– 46.Google Scholar
- Clarke, A. (1993). Response to: What counts a success in genetic counseling. J Med Ethics, 19, 47–49.Google Scholar
- Epstein, C. J. (1973). Who should do genetic counseling and under what circumstances? Birth Defects OAS, 9, 39–48.Google Scholar
- Harper, P. S. (1998). Practical genetic counseling, (5th Ed.) Oxford: Butterworth-Heimann.Google Scholar
- Hsia, Y. E., & Hirschorn, K. (1979). Counseling in genetics, Alan R. Liss, Inc.Google Scholar
- Human Genome Project Information, “Genetic Counseling” http://www.ornl.gov/hgmis/medicine/ genecounseling.htmlGoogle Scholar
- Kelly, T. A. (1986). Clinical Genetics and Genetic Counseling.Google Scholar
- Kids Health http://kidshealth.org/parent/pregnancy_newborn/ medical_ problems/genetic_counseling.htmlGoogle Scholar
- National Society of Genetic Counselors (2005). (www.nsgc.org; accessed November 4, 2005).Google Scholar
- Resta, R. G. (Ed). (2000). Psyche and Helix: Psychological Aspects of Genetic Counseling. Essays by Seymour Kessler. New York: Wiley-Liss.Google Scholar
- Resta, R. (in press). Defining and redefining genetic counseling. Am J Med Genet (Semin. Med. Genet.).Google Scholar
- Revel, M. (1995). International Bioethics Committee of UNESCO—Working Group On Genetic Counseling. Proceedings of the Third Session. Paris. (See http://portal.unesco.org/shs/en/ev.php-URL_ID=2302&URL_DO=DO_TOPIC&URL_SECTION=201.html).Google Scholar
- Roter, D., Elligton, L., Hamby Erby, L., Larson, S., & Dudley, W. (in press). The Genetic Counseling Video Project (GCVP): Models of Practice. Am. J. Med. Genet. (Semin. Med. Genet.).Google Scholar
- UNESCO International Bioethics Committee (1995). Proceedings of the Third Session.Google Scholar
- Walker, A. (1998). The Practice of Genetic Counseling In D. Baker, J. Schuette, & W. Uhlmann (Eds.), A Guide to Genetic Counseling, 5, New York: Wiley-Liss pp. 1–20.Google Scholar